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A rare case of dysferlinopathy with paternal isodisomy for chromosome 2 determined by exome sequencing
BACKGROUND: Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. METHODS: We performed exome sequencing and subsequent trio‐based analysis in a family with dysferlinopathy....
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9938747/ https://www.ncbi.nlm.nih.gov/pubmed/36464789 http://dx.doi.org/10.1002/mgg3.2110 |